| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Distal muscle weakness, Spinal rigi... |
OMIM:255600 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal muscle weakness, Lumbar hyperlordosis, Short stature, Scoliosis, Lower li... |
OMIM:619042 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Joint laxity, Bulbar palsy, Lumbar hyperlordosis, Short stature, Spondylolisthesi... |
OMIM:600561 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Distal muscle weakness, Congenital foot contraction deformities, Proximal muscle weakness, Hyperl... |
ORPHA:363454 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Respiratory insufficie... |
OMIM:300718 |
| Rigid Spine Syndrome |
|
Hip contracture, Poor head control, Hyperlordosis, Spinal rigidity, Gowers sign, Elbow flexion co... |
ORPHA:97244 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,... |
ORPHA:40 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Lumbar hyperlordosis, Short stature, Knee flexion contracture, Congenital foot c... |
OMIM:602484 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Distal muscle weakness, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Proximal... |
OMIM:611067 |
| Congenital Myopathy 16 |
|
Distal muscle weakness, Lumbar hyperlordosis, Spinal rigidity, Proximal muscle weakness, Flexion ... |
OMIM:618524 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Distal muscle weakness, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee... |
OMIM:600175 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Proximal muscle weakness, Gowers sign, Generalized muscle weakness, Flexion... |
OMIM:613723 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Diaphragmatic weakness, Distal lower limb muscle weakness, Hyperlordosis |
OMIM:607088 |
| Isolated Glycerol Kinase Deficiency |
|
Cryptorchidism, Osteoporosis, Scoliosis, Hyperlordosis |
ORPHA:408 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Poor head control, Slender build, Hyperlordosis, Proximal muscle weakness, Gowers sign, Achilles ... |
OMIM:620389 |
| Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Gowers si... |
OMIM:610687 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Thoracic scoliosis, Proximal muscle weakness, Hyperlordosis, Gowers sign, Achilles tendon contrac... |
ORPHA:62 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Disproportionate short-trunk short stature, Irregu... |
OMIM:609223 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Gowers sign, Proximal muscle weakness, S... |
OMIM:617404 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Bulbar palsy, Neck flexor weakness, Facial palsy, Slender build, Spinal rigidity, Hyperlordosis, ... |
OMIM:161800 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Lower limb muscle weakness, Ankle flexion contracture, Spinal rigidity, Hyperlordosis, Proximal m... |
ORPHA:267 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Osteomesopyknosis |
|
Low back pain, Increased bone mineral density, Infertility |
OMIM:166450 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Bulbar palsy, Hyperlordosis, Kyphosis, Achilles tendon contracture, Gowers sign,... |
OMIM:615290 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Gowers sign, Lumbar hyperlordosis, Ankle flexion contracture |
ORPHA:280333 |
| Myopathy, Centronuclear, 2 |
|
Distal muscle weakness, Facial palsy, Hyperlordosis, Respiratory insufficiency due to muscle weak... |
OMIM:255200 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Progressive external ophthalmoplegia, Multiple joint contractures, Hyperlordosis, Limb-girdle mus... |
ORPHA:352470 |
| Myopathy, Scapulohumeroperoneal |
|
Neck flexor weakness, Facial palsy, Hyperlordosis, Progressive muscle weakness, Achilles tendon c... |
OMIM:616852 |
| Myasthenic Syndrome, Congenital, 5 |
|
Hyperlordosis, Respiratory insufficiency due to muscle weakness, Generalized muscle weakness, Oph... |
OMIM:603034 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Poor head control, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitation of j... |
ORPHA:157973 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Limb-girdle muscle weakness, Gowers sign, Lumbar hyperlordosis, Ankle flexion contracture |
OMIM:613818 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood u... |
OMIM:617872 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Reduced bone mineral density, Disproportionate short stature, Scoliosis, Hyperlordosis |
ORPHA:2501 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Proximal muscle weakness, Quadriceps muscle weakness, G... |
ORPHA:206546 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
| Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Distal muscle weakness, Proximal muscle weakness, Hyperlordosis |
OMIM:162370 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Short stature, Joint stiffness, Hyperlordosis, Abnormal form of the ve... |
ORPHA:577 |
| Familial Anetoderma |
|
Generalized joint laxity, Lumbar hyperlordosis |
ORPHA:228277 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, External ophthalmoplegia, P... |
OMIM:160150 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Joint stiffness, Spinal rigidity, Limb-girdle muscle weakness, Flexion cont... |
OMIM:609308 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Progressive external ophthalmoplegia, Hyperlordosis, Gowers sign, Ophthalmoparesis, Shoulder gird... |
OMIM:615156 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia |
OMIM:304800 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Bulbar palsy, Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Proximal muscle weaknes... |
OMIM:255310 |
| Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Distal muscle weakness, Facial palsy, Proximal muscle weakness, Neck muscle... |
OMIM:160500 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Pure Mitochondrial Myopathy |
|
Progressive external ophthalmoplegia, Lumbar hyperlordosis, Neck flexor weakness, Distal muscle w... |
ORPHA:254854 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Bethlem Myopathy |
|
Multiple joint contractures, Limb-girdle muscle weakness, Gowers sign, Flexion contracture, Quadr... |
ORPHA:610 |
| Nemaline Myopathy 2 |
|
Bulbar palsy, Neck flexor weakness, Slender build, Spinal rigidity, Hyperlordosis, Respiratory in... |
OMIM:256030 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Joint laxity, Poor head control, Lumbar hyperlordosis, Distal muscle weakness, Facial palsy, Prox... |
ORPHA:353327 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Joint laxity, Distal muscle weakness, Ankle flexion contracture, Hyperlordosis, Proximal muscle w... |
OMIM:617760 |
| Myasthenic Syndrome, Congenital, 14 |
|
Hyperlordosis, Distal joint laxity, Limb-girdle muscle weakness, Gowers sign, Knee flexion contra... |
OMIM:616228 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Obesity, Secondary ameno... |
ORPHA:3085 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Lumbar hyperlordosis, Facial palsy, Proximal muscle weakness, Progressive proximal mus... |
OMIM:167320 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Peroneal muscle weakness, Hyperlordosis, Proximal muscle weakness, Progressive muscle weakness, G... |
OMIM:611588 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... |
ORPHA:3008 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract... |
ORPHA:536516 |
| Ck Syndrome |
|
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Slender build, Joint hyper... |
OMIM:300831 |
| Hypochondroplasia |
|
Hyperlordosis, Osteoarthritis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Join... |
ORPHA:429 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Short stature, Se... |
ORPHA:99642 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Abdominal wall muscle weakness, Proximal muscle weakness, Hyperlordosis |
OMIM:618129 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Proximal muscle weakness in upper limbs, Lumbar hyperlordosis, Distal muscle weakness, Proximal m... |
ORPHA:435387 |
| Myasthenic Syndrome, Congenital, 16 |
|
External ophthalmoplegia, Fatigable weakness, Hyperlordosis |
OMIM:614198 |
| Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Obesity, Infertility, Oligozoospermia |
OMIM:615703 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Failure to thrive, Rickets |
OMIM:602722 |
| Anauxetic Dysplasia 2 |
|
Short stature, Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, P... |
OMIM:617396 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Limited elbow extension, Thoracolumbar scoliosis |
OMIM:610313 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Masa Syndrome |
|
Kyphosis, Short stature, Hyperlordosis |
OMIM:303350 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Limited elbow extension, Disproportionate short-limb short stature, Short s... |
ORPHA:156728 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Generalized joint laxity, Lumbar hyperlordosis, Short stature |
OMIM:609325 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Proximal muscle weakness, Kypho... |
OMIM:606612 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Short stature, Kyphosis, Obesity, Scoliosis |
OMIM:616756 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical b... |
ORPHA:970 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Fa... |
OMIM:613845 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o... |
OMIM:313400 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
| Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Weight loss |
ORPHA:178029 |
| Myotonia Permanens |
|
Short stature, Hyperlordosis, Ophthalmoplegia, Limitation of joint mobility, Ophthalmoparesis, Mu... |
ORPHA:99735 |
| Typical Nemaline Myopathy |
|
Neck flexor weakness, Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion... |
ORPHA:171436 |
| Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Hypernatremia |
ORPHA:223 |
| Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Short stature, Kyphoscoliosis, Hyperlordosis, Disproportionate short stature, Ad... |
OMIM:618363 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Elbow contracture, Hyperlordosis, Proximal muscle weakness, Progressive mus... |
OMIM:620249 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Childhood-o... |
OMIM:184100 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cryptorchidism, Limitation of joint mobility, Anemia, Hyperlordosis |
ORPHA:1192 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Infancy onset short-trunk short stature, Short stature, Thoraco... |
ORPHA:1159 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Short neck, Hypoplasia of the odontoid pr... |
OMIM:264180 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Limited hip extension, Joint stiffness, Hypoplasia of the odo... |
ORPHA:750 |
| King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Thora... |
OMIM:619542 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Failure to thrive, Small for gestational age, Decreased circulating renin level |
OMIM:218030 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased c... |
ORPHA:171876 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures |
ORPHA:199296 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:264350 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Webb-Dattani Syndrome |
|
Hypernatremia, Obesity |
OMIM:615926 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Hyperlordosis, Progressive muscle weakness, Gowers sign, Generalized muscle weakness, Scoliosis, ... |
OMIM:620285 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Proximal muscle weakness, Hyperlordosis, Cryptorchidism, Flexion contracture, Gener... |
OMIM:613156 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Distal muscle weakness, Short stature, Hyperlordosis, Proximal muscle weakness, Osteolysis, Incre... |
ORPHA:52430 |
| Mucolipidosis Iii Gamma |
|
Short stature, Joint stiffness, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:252605 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Severe short stature, Hyperlordosis, Scoliosis, Intrauterine growth retardation, Failure to thrive |
OMIM:617352 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Gowers sign, Proximal muscle weakness, Hyperlordosis |
OMIM:613157 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentati... |
ORPHA:1797 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly... |
ORPHA:6 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Proximal muscle weakness, Kyphosis, Achilles tendon contracture,... |
OMIM:607155 |
| Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Premature osteoarthritis, Lumbar hyperlordosis, Short stature |
OMIM:165800 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Mild short stature, Lumbar hyperlordosis, Scoliosis, Joint stiffness |
OMIM:618167 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Failure to thrive, Rickets |
OMIM:611590 |
| Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Lumbar hyperlordosis, Limited hip extension, Shoulder flexion contra... |
OMIM:617114 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Severe short stature, Hyperlordosis, Short neck, Delayed epiphyseal ossification, P... |
ORPHA:93352 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle weakness, Facial palsy, Progressive distal muscle weakness, Hyperlordosis, Kyphos... |
OMIM:181405 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ... |
ORPHA:2114 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Scoliosis, Hyperlordosis |
ORPHA:1387 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... |
ORPHA:324575 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Severe short stature, Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Dispropor... |
OMIM:184250 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia... |
OMIM:227810 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Spinal rigidity, Proximal muscle weakness, Limb-girdle muscle weakness, Gow... |
ORPHA:86812 |
| Three M Syndrome 1 |
|
Short stature, Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, ... |
OMIM:273750 |
| Acrocapitofemoral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Scoliosis, Hyperlordosis |
ORPHA:63446 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Lumbar hyperlordosis, Neck flexor weakness, Gowers sign, Achilles tendon contracture, Upper limb ... |
ORPHA:353 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... |
ORPHA:682 |
| Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Decreased hip abduction, Thoracolumbar scoliosis, Kyphoscoliosis, Short nec... |
OMIM:114300 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Neonatal hypoglycemia, Joint hypermobility, Increased blood urea nitrogen |
OMIM:223360 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... |
ORPHA:3041 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Failure to thrive, Hypoglycemia, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuri... |
ORPHA:199299 |
| Functioning Gonadotropic Adenoma |
|
Osteopenia, Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth h... |
ORPHA:91348 |
| Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis |
OMIM:617054 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral hei... |
OMIM:616817 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive |
OMIM:214700 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Ck Syndrome |
|
Lumbar hyperlordosis, Slender build, Joint hypermobility, Kyphoscoliosis |
ORPHA:251383 |
| Steel Syndrome |
|
Lumbar hyperlordosis, Short stature, Scoliosis, Carpal synostosis, Limited elbow extension |
OMIM:615155 |
| Three M Syndrome 3 |
|
Short stature, Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, ... |
OMIM:614205 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
| Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria |
OMIM:134600 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lumbar hyperlordosis, Proximal muscle weakness, Abdominal obesity, Lower limb muscle weakness, Mu... |
OMIM:615980 |
| Thoracomelic Dysplasia |
|
Hyperlordosis, Joint hyperflexibility, Disproportionate short-limb short stature, Short neck |
ORPHA:1803 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Joint laxity, Hyperlordosis, Progressive muscle weakness, Gowers sign, Growth delay, Delayed pube... |
OMIM:600462 |
| Cystinosis |
|
Rickets, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Failure to thrive |
ORPHA:213 |
| Muscular Dystrophy, Duchenne Type |
|
Hyperlordosis, Respiratory insufficiency due to muscle weakness, Gowers sign, Achilles tendon con... |
OMIM:310200 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Short stature, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Vertebral segmentation de... |
ORPHA:1323 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Hyperlordosis, Short neck, Kyphosis, Spinal r... |
ORPHA:98863 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Diarrhea 13 |
|
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Facial palsy, Hyperlordosis, Gowers sign, Progressive muscle weakness, Ophthalmo... |
ORPHA:169186 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu... |
OMIM:615160 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Lumbar hyperlordosis, Short stature, Cervical kyphosis, Kyphoscoliosis, Short ne... |
OMIM:255800 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Disproportionate short stature, Irregular vertebral endplates, Platyspondyl... |
OMIM:609616 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthritis, Disproportionat... |
OMIM:271650 |
| Wieacker-Wolff Syndrome |
|
Short stature, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, S... |
OMIM:314580 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies... |
OMIM:242900 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Spinal rigidity, Hyperlordosis, Kyphosis, Joi... |
ORPHA:98855 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis, Limited elbow extension, Disproportionate ... |
OMIM:146000 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:615761 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Hypercalcemia, Craniosynostosis, Obesity, Increased blood urea nitrogen |
ORPHA:251004 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
| Desbuquois Dysplasia 1 |
|
Joint laxity, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Osteopor... |
OMIM:251450 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Spinal rigidity, Hyperlordosis, Kyphosis, Joi... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Spinal rigidity, Hyperlordosis, Kyphosis, Joi... |
ORPHA:98853 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte... |
ORPHA:2522 |
| Joubert Syndrome 37 |
|
Lumbar hyperlordosis, Cryptorchidism, Obesity, Micropenis, Decreased testicular size, Joint hyper... |
OMIM:619185 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Severe short stature, Abnor... |
ORPHA:93314 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Craniosynostosis, Scol... |
OMIM:619451 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Short stature, Facial palsy, Hypogonadotropic hypogonadism, Hyperlordo... |
ORPHA:3068 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Neck flexor weakness, Limited elbow movement, Spinal rig... |
ORPHA:268 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Gowers sign, Flexion contracture, Scoliosis, Hyperlordosis |
OMIM:253700 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Weight loss, ... |
OMIM:619381 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Arthrit... |
ORPHA:247353 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive a... |
ORPHA:2232 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Osteoporosis, Obesity, Glucose intolerance, Hypokalemia, Abdominal ob... |
OMIM:219090 |
| Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... |
OMIM:256050 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalbuminemia, Hype... |
ORPHA:1667 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Poor head control, Facial palsy, Fatiguable weakness of... |
ORPHA:171881 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... |
ORPHA:2020 |
| Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... |
OMIM:253000 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Platyspondyly, D... |
OMIM:602557 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... |
ORPHA:94068 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Failure to thrive |
OMIM:620157 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Ketotic hypoglycemia, Hyperkalemia, Hypoglycemic seizures, Weight loss, Failure to ... |
ORPHA:361 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
| Anauxetic Dysplasia 1 |
|
Joint laxity, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Short neck... |
OMIM:607095 |
| Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Radial club hand, Hyperkalemia, Decreased body weight |
OMIM:617053 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis |
ORPHA:391673 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Hyperkalemia, Glycosuria, Failure to thrive |
ORPHA:97362 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni... |
OMIM:614172 |
| Alg8-Cdg |
|
Hyponatremia, Failure to thrive, Small for gestational age, Camptodactyly |
ORPHA:79325 |
| Arthrogryposis, Distal, Type 5D |
|
Short stature, Limited elbow movement, Hyperlordosis, Short neck, Limited knee flexion, Elbow fle... |
OMIM:615065 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hypoglycemia, Hyperlipidemia, Osteoporosis, Failure to thrive |
ORPHA:369 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overwe... |
OMIM:617796 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
| Addison Disease |
|
Hyponatremia, Failure to thrive, Hypoglycemia, Hypercalcemia, Hyperkalemia, Weight loss, Increase... |
ORPHA:85138 |
| Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, Ky... |
OMIM:177170 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Increased susceptibil... |
ORPHA:3337 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Mucopolysaccharidosis Type 4 |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Reduced bone mineral d... |
ORPHA:582 |
| Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count |
OMIM:615592 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating renin... |
ORPHA:95409 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
| Lead Poisoning |
|
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Cranial h... |
ORPHA:330015 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Glycosuria, Hy... |
OMIM:616026 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Distal muscle weakness, Lumbar hyperlordosis, Proximal muscle weakness, Scoliosis, Limb muscle we... |
OMIM:601152 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Spinal rigidity, Hyperlordosis, Proximal muscle weakness, Flexion contracture, Osteop... |
OMIM:613327 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Reduced bone mineral density, Weight loss, Hypokalemia, Increased serum bile... |
OMIM:619377 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Severe short stature, Facial palsy, Hyperlordosis, Osteopetrosis,... |
ORPHA:2780 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive |
OMIM:613090 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Failure to thrive, Neonatal hypogl... |
ORPHA:90791 |
| 3Mc Syndrome |
|
Craniosynostosis, Hyperlordosis, Bilateral cryptorchidism, Supernumerary nipple, Limited pronatio... |
ORPHA:293843 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
| Smith-Mccort Dysplasia 2 |
|
Short stature, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Disproportionate sh... |
OMIM:615222 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Short stature, Proportionate short stature, Irregular vertebral endplates, ... |
OMIM:156500 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Joint laxity, Lumbar hyperlordosis, Short stature, Proximal muscle weakness, Bilateral... |
OMIM:619234 |
| Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Decreased response to growth... |
OMIM:216550 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ... |
ORPHA:2789 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Ankle flexion contracture, Increased ... |
ORPHA:100924 |
| 2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia, ... |
OMIM:300200 |
| Hartsfield Syndrome |
|
Hypernatremia, Craniosynostosis |
OMIM:615465 |
| 3M Syndrome |
|
Short stature, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertili... |
ORPHA:2616 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Short stature, Hyperlordosis, Coronal cleft vertebrae, Finger joint hypermobility, ... |
OMIM:618870 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Severe short stature, Scoliosis, Hyperlordosis |
ORPHA:2511 |
| Intellectual Disability And Myopathy Syndrome |
|
Achilles tendon contracture, Lumbar hyperlordosis, Limited elbow extension, Scoliosis |
OMIM:619719 |
| Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Decreased response to growth hormone stimulation te... |
ORPHA:763 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
| Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Disproportionate short statu... |
ORPHA:15 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Osteosclerosis of ri... |
ORPHA:174 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:128100 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
| Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
| Three M Syndrome 2 |
|
Severe short stature, Lumbar hyperlordosis, Short stature, Small for gestational age, Hyperlordos... |
OMIM:612921 |
| Satoyoshi Syndrome |
|
Hyperlordosis, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abno... |
ORPHA:3130 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Splenomegaly, Abnormal form of... |
ORPHA:354 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Short stature, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3218 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:168558 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia |
OMIM:175500 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Knee osteoarthritis, Osteoporosis, Bone cyst, Camp... |
ORPHA:2848 |
| Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Hypoplasia of the odontoid ... |
OMIM:253010 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:289548 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Short stature, Ovoid vertebral... |
ORPHA:93315 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Whipple Disease |
|
Hyponatremia, Arthritis, Insulin resistance, Cachexia |
ORPHA:3452 |
| Camurati-Engelmann Disease |
|
Cachexia, Hyperlordosis, Kyphosis, Splenomegaly, Craniofacial osteosclerosis, Limitation of joint... |
ORPHA:1328 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Short stature, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Ma... |
ORPHA:1798 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Lumbar hyperlordosis, Cryptorchidism, Delayed ossification of pubic rami, Joint contracture, Scap... |
OMIM:602471 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Failure to thrive, Decreased circulating renin level |
ORPHA:320 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Obesity, Tracheomalacia |
OMIM:620155 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Glycosuria, Hypokalemia, Hypophosphatemia, Failure to ... |
ORPHA:411629 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Thoracic kyphosis |
OMIM:619467 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Small for gestational age, Cryptorchidism, Glandular hypospadias, Uterine l... |
ORPHA:1439 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Short stature, Hyperlordosis, Hypoplasia of the odontoid process, Osteoporosis, Ivory epiphyses o... |
OMIM:226980 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Platyspondyly, Disproportionate short-limb short st... |
OMIM:608728 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,... |
ORPHA:94086 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi... |
OMIM:619510 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Short stature, Hyperlordosis, Hypoplasia of the odontoid process, Delayed epiphyseal ... |
OMIM:616007 |
| Facioscapulohumeral Dystrophy |
|
Hyperlordosis |
ORPHA:269 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Oculoskeletodental Syndrome |
|
Short stature, Thoracic kyphosis, Scoliosis, Hyperlordosis |
ORPHA:557003 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
| Alg12-Cdg |
|
Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone ossification, Failure to thr... |
ORPHA:79324 |
| Jansen-De Vries Syndrome |
|
Short stature, Hyperlordosis |
OMIM:617450 |
| Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
| 46,Xy Sex Reversal 4 |
|
Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Chromosome 10Q26 Deletion Syndrome |
|
Lumbar hyperlordosis, Small for gestational age, Small scrotum, Craniosynostosis, Short neck, Cry... |
OMIM:609625 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space... |
OMIM:607944 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Scoliosis, Joint hypermobility |
OMIM:617821 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Short stature, Hyperlordosis, Scoliosis, Failure to thrive |
OMIM:300986 |
| Immunodeficiency 68 |
|
Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count |
OMIM:612260 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... |
ORPHA:331206 |
| Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Multic... |
OMIM:223800 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short... |
ORPHA:1830 |
| Pfeiffer Syndrome |
|
Hyperlordosis, Synostosis of carpal bones, Short stature, Short neck |
ORPHA:710 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba... |
OMIM:250250 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Rickets, Reduced blood urea nitrog... |
OMIM:219800 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Shoulder flexion ... |
ORPHA:800 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... |
OMIM:231100 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased susceptibility to fractures, Scoliosis, Neutropenia, Lymphopenia, Reduced natural kille... |
OMIM:619752 |
| Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Abnormal blood ion concentration, Arthr... |
ORPHA:810 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Osteoarthritis, Limitation of jo... |
ORPHA:1427 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Increased circulating renin ... |
ORPHA:89938 |
| Braddock-Carey Syndrome 1 |
|
Camptodactyly, Thrombocytopenia, Hyperlordosis |
OMIM:619980 |
| Adrenocortical Carcinoma |
|
Hypokalemia, Diabetes mellitus, Increased body weight, Weight loss |
ORPHA:1501 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Fucosidosis |
|
Cervical platyspondyly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Anterior bea... |
OMIM:230000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Failure to thrive, Small for gestational age |
OMIM:618252 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Ivory epiphyses of the distal phalanges of the hand, Short stature, Hyperlordosis, Os... |
OMIM:190350 |
| Microphthalmia, Lenz Type |
|
Hypospadias, Camptodactyly of finger, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:568 |
| Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Disproportionate short-trunk short stature, Platyspondyly, Posterior scalloping of... |
OMIM:619698 |
| East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
| Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Spina bifida occulta, Short stature |
OMIM:169550 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck |
ORPHA:171866 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Acromesomelic Dysplasia 1 |
|
Joint laxity, Lumbar hyperlordosis, Ovoid vertebral bodies, Disproportionate short stature, Thora... |
OMIM:602875 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hyperlordosis, Respiratory insufficiency due to muscle weakness, Gowers sign, Progressive proxima... |
ORPHA:365 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Female infertility, Cry... |
ORPHA:261529 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Short stature, Flexion contracture, Premature osteoarthritis, Coronal cleft... |
OMIM:215150 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia |
OMIM:174900 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... |
OMIM:601678 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Obesity, Scoliosis |
OMIM:618443 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Platyspondyly |
OMIM:612813 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl... |
OMIM:618019 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in infancy, Hypers... |
OMIM:613385 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platy... |
ORPHA:457395 |
| Cockayne Syndrome Type 1 |
|
Failure to thrive, Foot joint contracture, Increased blood urea nitrogen |
ORPHA:90321 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Recurrent hypoglycemia, Failure to thrive, Hyperkalemia |
ORPHA:293978 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia |
OMIM:611489 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Proximal muscle weakness, Hyperlordosis |
ORPHA:369840 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Increased interver... |
ORPHA:508533 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
| Gapo Syndrome |
|
Dysmenorrhea, Abnormal form of the vertebral bodies, Oligozoospermia, Joint hyperflexibility, Hyp... |
ORPHA:2067 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Laryngotracheomalacia, Platyspondyl... |
OMIM:271510 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosis, Cryptorchidism, Abnormal form o... |
ORPHA:794 |
| Desbuquois Dysplasia 2 |
|
Joint laxity, Lumbar hyperlordosis, Severe short stature, Short neck, Postnatal growth retardatio... |
OMIM:615777 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombo... |
OMIM:616050 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Hepatosplenomegaly, Oligozoospermia, Weight loss, H... |
ORPHA:85450 |
| Immunodeficiency 54 |
|
Splenomegaly, Failure to thrive, Reduced natural killer cell count, Adrenocorticotropic hormone e... |
OMIM:609981 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Hyperlordosis, Abnormal T cell subset distribution, Arthritis, B lymphocytopenia, Dec... |
ORPHA:221139 |
| Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Hypoplastic sacrum, Small for gestational age, Oligozoospermia, Clitoral hypoplasia, ... |
OMIM:614813 |
| Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordosis, Short nec... |
ORPHA:175 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
| Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
| Familial Dysautonomia |
|
Hyponatremia, Osteolysis, Recurrent fractures |
ORPHA:1764 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short stature, Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:77258 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Langer Mesomelic Dysplasia |
|
Mesomelic short stature, Lumbar hyperlordosis |
OMIM:249700 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Lumbar hyperlordosis, External genital hypoplasia, Short neck, Cryptorchidism, Genera... |
ORPHA:251028 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
| Martsolf Syndrome 1 |
|
Joint laxity, Thoracic scoliosis, Lumbar hyperlordosis, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:212720 |
| Alexander Disease |
|
Osteopenia, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Scoliosis, Failure to thrive |
ORPHA:58 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive |
OMIM:602522 |
| Distal Renal Tubular Acidosis |
|
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok... |
ORPHA:18 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Contracture of the distal interphalangeal joint of the fingers, ... |
ORPHA:2614 |
| Solitary Fibrous Tumor |
|
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick... |
ORPHA:2126 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
| Hallermann-Streiff Syndrome |
|
Small for gestational age, Hyperlordosis, Cryptorchidism, Decreased number of sternal ossificatio... |
OMIM:234100 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis,... |
OMIM:162300 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Adrenal hyperplasia, Flexion contracture, Abnormal ovarian morphology, Microp... |
ORPHA:95699 |
| Sheehan Syndrome |
|
Hyponatremia, Hypoglycemia, Obesity |
ORPHA:91355 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Lumbar hyperlordosis, Kyphosis, Irregular menstruation, Platyspondyly, Uterine lei... |
OMIM:616482 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia |
ORPHA:95613 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive |
OMIM:618426 |
| Achondroplasia |
|
Lumbar hyperlordosis, Limited hip extension, Rhizomelia, Generalized joint laxity, Lumbar kyphosi... |
OMIM:100800 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Hypercholesterolemia, Fa... |
ORPHA:275761 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:272460 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Hypokalemia, Increased circulating renin level, Recurrent i... |
ORPHA:508 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Short stature, Hyperlordosis, Proximal muscle weakness, Gowers sign, Scoliosis, Intrauterine grow... |
OMIM:615356 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Small for gestational age, Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammone... |
OMIM:617093 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Cryptorchidism, Lumbar hyperlordosis, Obesity, Hyperlordosis |
OMIM:616078 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
| Gitelman Syndrome |
|
Hypokalemia, Failure to thrive, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Poor head control, Fatigable weakness of neck muscles, Proximal muscle weakness, Hyperlordosis |
ORPHA:26791 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... |
ORPHA:125 |
| Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic ... |
ORPHA:91 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypoch... |
OMIM:241200 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal... |
ORPHA:79124 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece... |
ORPHA:276 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Small scrotum, Hypogonadism, Hyperlordosis |
ORPHA:3253 |
| Distal Deletion 10Q |
|
Failure to thrive, Lumbar hyperlordosis, Short stature, Craniosynostosis, Postnatal growth retard... |
ORPHA:96148 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Hyperlordosis, Flexion contracture, Scoliosis, Intercostal muscle weakness, Decreas... |
ORPHA:258 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Low back pain, Pancytopenia, Myelofibrosis, Splenomegaly, Acute myelomono... |
ORPHA:86843 |
| Holoprosencephaly |
|
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Joint hyperflexibility |
ORPHA:2162 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness, Joint hyperflexi... |
ORPHA:534 |
| Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Mesomelic/rhizomelic limb shortenin... |
ORPHA:2839 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Sacral dimple, Small for gestational age, Hypospadias, Craniosynostosis, Hyperlordo... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Sacral dimple, Small for gestational age, Hypospadias, Craniosynostosis, Hyperlordo... |
ORPHA:363958 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Lumbar hyperlordosis, Proximal muscle weakness |
ORPHA:370959 |
| Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Juvenile rheumatoid arthritis, Abnormal natu... |
ORPHA:158061 |
| Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffness, Spinal canal s... |
OMIM:277600 |
| Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
| Gitelman Syndrome |
|
Maternal diabetes, Insulin resistance, Hypermagnesemia, Gout, Glucose intolerance, Hypokalemia, D... |
ORPHA:358 |
| Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Osteomyelitis, Abnormal proportion of CD8-positive T cells, ... |
ORPHA:443811 |
| Proximal Renal Tubular Acidosis |
|
Bicarbonaturia, Reduced bone mineral density, Hypokalemia, Glycosuria, Failure to thrive |
ORPHA:47159 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia |
ORPHA:369929 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Rhizomelia, Thoracic platyspondyly, Disp... |
OMIM:619636 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
| Japanese Encephalitis |
|
Hyponatremia, Stiff neck, Elbow flexion contracture |
ORPHA:79139 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level |
OMIM:607364 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Failure to thrive, Decreased circulating renin level |
ORPHA:90793 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Septic arthritis |
ORPHA:544482 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis, Severe short stature |
OMIM:184253 |
| Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Failure to thrive in infancy, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Failure to thrive, Reduced natural killer cell count |
OMIM:242860 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Lumbar hyperlordosis, Obesity, Disproportionate short-limb short stature, Scoliosis |
OMIM:250420 |
| Stiff-Person Syndrome |
|
Lumbar hyperlordosis, Anemia |
OMIM:184850 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Limited hip extension, Decreased hip abduction, Kyphoscoliosis, Short neck,... |
OMIM:143095 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Opitz-Kaveggia Syndrome |
|
Sacral dimple, Multiple joint contractures, Lumbar hyperlordosis, Hypospadias, Short neck, Crypto... |
OMIM:305450 |
| Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis |
ORPHA:3198 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive, Neonatal hypoglycemia |
ORPHA:90794 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hyperlordosis, Precocious puberty, Obesity, Hepatosplenomegaly, Cholelithiasis, Limited elbow ext... |
OMIM:301066 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Weight loss, Iron deficiency anemia, Arthritis, Lymphocytosis, Anoperineal fist... |
OMIM:301074 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormal morphology of female internal genitalia, Adenoma sebaceum, Scoliosis, Hyperlordosis |
ORPHA:3353 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Large for gestational age, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:617011 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Hyperglycemia |
ORPHA:293987 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Small for gestational age, Tarsal synostosis, Craniosynostosis, Hypoglycemia, Humer... |
OMIM:201750 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Myotonic Dystrophy 2 |
|
Hypogonadism, Elevated circulating follicle stimulating hormone level, Oligozoospermia |
OMIM:602668 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Hypokalemia |
OMIM:170390 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
| Sponastrime Dysplasia |
|
Joint laxity, Lumbar hyperlordosis, Small for gestational age, Hypospadias, Kyphoscoliosis, Preco... |
ORPHA:93357 |
| Pearson Syndrome |
|
Diabetes mellitus, Small for gestational age, Hypomagnesemia, Glycosuria, Hypokalemia, Hypocalcem... |
ORPHA:699 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Increased circu... |
OMIM:619991 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Short neck, Joint stiffness, Thrombocytopenia, Flexion contracture, Lumbar ... |
ORPHA:505248 |
| Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, Ant... |
OMIM:253200 |
| Vipoma |
|
Hypokalemia, Diabetes mellitus, Hypercalcemia, Weight loss |
ORPHA:97282 |
| Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Decreased response to growth hormone stimulation test, Hyperlordosis, Cryptorchidis... |
OMIM:615873 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Sacral dimple, Short neck, Hyperlordosis, Precocious puberty, Scoliosis, Macroorchidism, Failure ... |
OMIM:619950 |
| Marburg Hemorrhagic Fever |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
ORPHA:99826 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
| Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Short stature, Scoliosis, Limited elbow extension |
OMIM:161200 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Short stature, Camptodactyly of finger, Hyperlordosis, Growth delay, Joint hyperflexibility, Intr... |
ORPHA:261330 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
| Frontorhiny |
|
Hypopituitarism, Lumbar hyperlordosis, Camptodactyly of finger, Scoliosis |
ORPHA:391474 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Hypoglycemia |
ORPHA:786 |
| Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffness, Elbow flexion ... |
OMIM:608328 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Limitati... |
ORPHA:457359 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Hypokalemia, Osteoporosis, Weight loss |
ORPHA:91347 |
| Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight |
OMIM:182210 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Glycosuria,... |
ORPHA:447 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi... |
ORPHA:573278 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
| Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Disproportionate short stature, Dela... |
OMIM:607778 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
| Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Increased circulating creatine kinase MB isoform, ... |
ORPHA:466677 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Nelson Syndrome |
|
Hypokalemia, Type II diabetes mellitus |
ORPHA:199244 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Abnormal form of the vertebral bodies, Vertebral segmentation de... |
ORPHA:904 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
| Carney Complex |
|
Increased body weight, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnormal sperm motility... |
ORPHA:1359 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pro... |
OMIM:619573 |
| Immunodeficiency 92 |
|
Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop... |
OMIM:619652 |
| Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Cervical neoplasm, Kyphoscoliosis, Hyperlordosis, Thyroid C cell hyperplasia, Prima... |
ORPHA:653 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Joint laxity, Hemolytic anemia, Sacral dimple, Hyperextensibility of the finger joints, Hip contr... |
OMIM:619503 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Hypospadias, Cryptorchidism, Scoliosis, Annular pancreas |
OMIM:616975 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Scoliosis |
ORPHA:522077 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:620133 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Kyphoscoliosis, Hyperlordosis, Bone cyst, Granuloma, Scoliosis, Joint hypermobility |
ORPHA:363700 |
| Iniencephaly |
|
Arthrogryposis multiplex congenita, Absent vertebra, Rhizomelia, Hyperlordosis |
ORPHA:63259 |
| Goodpasture Syndrome |
|
Weight loss, Increased blood urea nitrogen |
OMIM:233450 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Eosinophilia, Auto... |
ORPHA:3261 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... |
OMIM:608233 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Hypoplastic sweat glands, Joint laxity, Hyperlordosis |
ORPHA:73223 |
| Fructose Intolerance, Hereditary |
|
Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Fa... |
OMIM:229600 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionat... |
OMIM:300106 |
| Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Decreased body weight, Failure to thrive, Joint hy... |
OMIM:618371 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea, Delayed puberty |
ORPHA:99429 |
| Tetrasomy 9P |
|
Absent gallbladder, Sacral dimple, Short neck, Cryptorchidism, Oligozoospermia, Arthritis, Infert... |
ORPHA:3310 |
| Branchiooculofacial Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Postnatal growth retardation, Cryptorchidism, ... |
OMIM:113620 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Sagittal ... |
ORPHA:500150 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Short neck, Cryptor... |
OMIM:309583 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Crypt... |
OMIM:227650 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration, Decreased body we... |
ORPHA:340 |
| Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Bilateral cryptorchidis... |
ORPHA:1772 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
| Alström Syndrome |
|
Thoracic scoliosis, Hypergonadotropic hypogonadism, Precocious puberty in females, Decreased resp... |
ORPHA:64 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| Noonan Syndrome 1 |
|
Male infertility, Short stature, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Postna... |
OMIM:163950 |
| Vascular Ehlers-Danlos Syndrome |
|
Joint hyperflexibility, Hypokalemia, Osteoarthritis, Osteolysis |
ORPHA:286 |
| Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Cryptorchidism, Scoliosis, Camptodactyly, Join... |
OMIM:309800 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Recurrent fractures, Kyphoscoliosis, Kyphosis, Cryptorchidism, Osteoporosis, Abnorma... |
ORPHA:3063 |
